Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

Autor: Yates, John R.W a, b, *, Bagshaw, Jane c, Aksmanovic, Veronica M.A b, c, Coomber, Ellen c, McMahon, Robert c, Whittaker, Joanne L c, Morrison, Patrick J d, Kendrick-Jones, John e, Ellis, Juliet A a
Zdroj: In Neuromuscular Disorders 1999 9(3):159-165
Databáze: ScienceDirect